New
Molecular diagnosis of Noonan and others genetically related syndromes by Array CGC
Improved to 80 mutations.
The ARRAY CGC was developed to complement the clinical diagnosis in all cases where there is a suspicion of Noonan Syndrome. This technology identifies in a single test, the most frequent gene mutations associated with Noonan Syndrome as well as other genetically related syndromes. This panel is also designed for Prenatal diagnosis.
The ARRAY CGC represents a step forward since it allows the molecular diagnosis of 80 point mutations identified in the 8 genes involved in Nonnan Syndrome as well as a differential diagnosis for Costello, LEOPARD and Cardiofaciocutaneous syndromes: PTPN11, RAF1, SOS1, KRAS, HRAS, BRAF, MAP2K1, MAP2K2.
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Molecular diagnosis of Bardet-Biedl syndrome by Array CGC
Improved to 130 mutations.
Bardet-Biedl Syndrome (BBS) is a pleiotropic ciliopathy characterized by inducing alterations in diverse body systems leading to a wide range of clinical features. Its prevalence in Europe is estimated at 1/150,000. Its main features are obesity, progressive pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities. Pigmentary retinopathy is always present in adults. Other frequent complications include congenital cardiopathy and Hirschsprung disease, and, further on, diabetes mellitus and hypertension. People with BBS will need multidisciplinary medical care. The renal abnormalities are life-threatening and may lead to renal transplantation. Progressive vision loss, some degree of intellectual deficit and obesity can severely impair the life quality of the affected persons. The differential diagnosis includes Alström, McKusick-Kaufmann, Meckel-Gruber, Joubert, Senior-Loken syndromes and Leber Congenital Amaurosis.
This array test contains a panel of 130 mutations identified in the 13 principle genes involved in Bardet-Biedl syndrome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, MKK/BBS6, BBS7, TTC8/BBS8, B1/BBS9, BBS10, TRIM32/BBS11, BBS12, MKS1/BBS13.
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Molecular Diagnosis of Craniosynostosis by Array CGC
Improved to 52 mutations.
Craniosynostosis is a condition characterized by premature
closure of calvarial skull bones, caused by the fusion, before the
proper time, of one or more cranial sutures (Chun et al., 2003;
Cohen, 2005). This results in an abnormal shape of the skull and
face. With many sutures closing prematurely, the skull cannot
expand to accommodate the growing brain, which leads to
several consequences, including developmental delay and mental
retardation. Problems with vision and hearing can also appear.
The overall incidence for all forms of craniosynostosis is 1:2000-
1:2500 live births (French et al., 1990; Lajeunie et al., 1995).
This array test contains a panel of 52 point mutations, identified in 4 main genes involved on syndromic craniosynostosis.
As described in the literature (Chun K et al., 2003), with this set of mutations it is possible to identify the molecular basis of the most frequent and severe forms of genetic craniosynostosis syndromes.
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Molecular Diagnosis of Skeletal Dysplasia by Array CGC
Improved to 50 mutations.
Osteochondrodysplasias, also known as Bone Dysplasias or Skeletal Dysplasias account for over 350 different genetic
diseases with bone involvement but variable clinical characteristics (Superti-Furga and Unger, 2007; Krakow,2008), whose
diagnosis is based on clinical examination, radiological findings, histo-pathological and molecular analysis.
They represent around 5% of genetic diseases of the newborn (Orioli et al.1986) and are a cause of major problems for families
and patients due to its morbility, high lethality and complex medical problems, emerging since the prenatal period. In many
cases there is a high risk of recurrence in children or siblings.
In spite of being rare diseases, genetic testing can improve the clinical diagnosis and is very important for a differential
diagnosis.
The molecular characterization of genes responsible for these skeletal disorders, is of main interest for establishing a more precise diagnostic evaluation, namely during the prenatal period.
This array contains a panel of 50 point mutations, identified in the 6 main genes involved on these SD.
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Molecular Diagnosis of Thrombophilia and Warfarin Pharmacogenetics
Improved to 15 mutations.
Thrombophilia is defined as a predisposition for thrombosis which can arise from genetic factors, acquired changes in the clotting mechanism, or, more commonly, an interaction between genetic and acquired factors. About 40% of patients with thrombosis have inherited the disease.
The clinical expression of an inherited thrombophilia is influenced by multiple factors such as the number the risk alleles, coexisting genetic or acquired thrombophilic disorders, and circumstantial risk factors, which have a supra-additive effect on overall thrombotic risk.
Inherited thrombophilias have been associated with early and late recurrent pregnancy loss as a result of uteroplacental microvascular thrombosis and hypoperfusion. Obstetrical complications such as intrauterine growth retardation, placental abruption and preeclampsia have also been related to abnormal placental vasculature. Genetic thrombophilia are suspected to account for about 30% of these obstetrical complications. Poor pregnancy outcomes are associated with maternal thrombophilia but may also be associated with fetal thrombophilia by inheritance of maternal and paternal thrombophilic genes.
Inherited thrombophilia is suspected in individuals with a history of venous thromboembolism (VTE) manifest as deep vein thrombosis (DVT) or pulmonary embolism, especially in women with a history of VTE during pregnancy or in association with oral contraceptive use, and in individuals with a personal or family history of recurrent thrombosis. Thrombosis is treated according to standard guidelines that include oral administration of warfarin, which may be required on a long-term basis. Warfarin has a narrow therapeutic range and wide inter-individual dosing requirements that depend on different factors such as age, body size, other drugs and genetic factors. The genetic factors correspond to functional variants of genes that affect warfarin metabolism and activity.
